A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12683036



Internal ID1851361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11577838..11578933hg38UCSC Ensembl
Innerchr7:11577883..11578889hg38UCSC Ensembl
Outerchr7:11577794..11578978hg38UCSC Ensembl
chr7:11617465..11618560hg19UCSC Ensembl
Innerchr7:11617510..11618516hg19UCSC Ensembl
Outerchr7:11617421..11618605hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612218
Supporting Variants
SamplesHG01747
Known GenesTHSD7A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12683036
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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